遺伝性乳がん・卵巣がん症候群

腫瘍性疾患

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
Deletion	NM_000059.4(BRCA2):c.6393del (p.Lys2131fs)	BRCA2	Pathogenic	13	32914883	32914883	TA	T	reviewed by expert panel	ClinGen:CA10586556
Duplication	NM_000059.4(BRCA2):c.6410dup (p.Asn2137fs)	BRCA2	Pathogenic	13	32914899	32914900	T	TA	reviewed by expert panel	ClinGen:CA10586557
Deletion	NM_000059.4(BRCA2):c.6434del (p.Asn2145fs)	BRCA2	Pathogenic	13	32914923	32914923	GA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6659&base_change=del A,ClinGen:CA024024
Deletion	NM_000059.4(BRCA2):c.6450del (p.Val2151fs)	BRCA2	Pathogenic	13	32914940	32914940	TA	T	reviewed by expert panel	ClinGen:CA10586558
Deletion	NM_000059.4(BRCA2):c.6578_6584del (p.Glu2193fs)	BRCA2	Pathogenic	13	32915067	32915073	ATGGAAAT	A	reviewed by expert panel	ClinGen:CA10586559
Deletion	NM_000059.4(BRCA2):c.6623del (p.Asn2208fs)	BRCA2	Pathogenic	13	32915113	32915113	CA	C	reviewed by expert panel	ClinGen:CA10586560
Insertion	NM_000059.4(BRCA2):c.6642_6643insC (p.Tyr2215fs)	BRCA2	Pathogenic	13	32915134	32915135	T	TC	reviewed by expert panel	ClinGen:CA10586561
Deletion	NM_000059.4(BRCA2):c.6645_6649del (p.Tyr2215_Lys2217delinsTer)	BRCA2	Pathogenic	13	32915136	32915140	TACTCC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6872&base_change=del ACTCC,ClinGen:CA024252
Deletion	NM_000059.4(BRCA2):c.6692del (p.Ala2231fs)	BRCA2	Pathogenic	13	32915184	32915184	GC	G	reviewed by expert panel	ClinGen:CA10586562
Duplication	NM_000059.4(BRCA2):c.6757dup (p.Leu2253fs)	BRCA2	Pathogenic	13	32915248	32915249	T	TC	reviewed by expert panel	ClinGen:CA10586563